Becky Quick Shares Personal Story of Daughter's Rare Disease and Advocacy

The Hidden World of Rare Diseases

• 💡 Becky Quick, a CNBC anchor, shares her personal journey of raising a child with a rare genetic disease, a story she never thought she would tell.
• 🎯 Rare diseases collectively impact 30 million Americans, representing 10% of the population, yet 95% lack an FDA-approved treatment.
• 🧩 Small patient populations often mean limited investment from drug companies and outdated regulatory frameworks that slow down treatment development.

Kaylie's Diagnosis and Journey

• 👶 Becky and her husband Matt welcomed their daughter Kaylie, who was a happy and smiling baby, but concerns arose around seven months when she wasn't meeting developmental milestones.
• 🔍 After a "diagnostic odyssey," Kaylie was diagnosed with SYNGAP1, a rare genetic disorder affecting fewer than 1600 people globally, causing seizures, developmental delays, and intellectual disabilities.
• 🧠 SYNGAP1 means Kaylie produces only half the necessary SynGAP protein for brain development, resulting in unique neural connections that can lead to sensory overload and behavioral challenges.

Navigating Life with a Rare Disease

• 💔 The diagnosis was devastating, bringing uncertainty about Kaylie's lifespan and quality of life, and forcing the family to adjust their life plans significantly.
• 🗣️ Kaylie, despite severe Apraxia, has high receptive language, yet faces misunderstandings and unkind comments from others who underestimate her comprehension due to her speech difficulties.
• 🛠️ The family dedicates themselves to Kaylie's care and therapies, working exponentially harder to help her learn essential skills that other children acquire more easily.

Advocacy and CNBC Cures

• 🚀 Inspired by their experience, Becky and Matt launched CNBC Cures to build a community, raise awareness, and address the bottlenecks in rare disease research and treatment.
• 🤝 The initiative aims to connect families, share information, and streamline the process of getting scientific advancements from laboratories to patients faster.
• ✨ Becky highlights that while they are fortunate to have resources, the goal is to make the path less lonely for all families facing rare diseases, emphasizing that there's no mission without money and attention.

Hope and Progress

• 🌟 Despite challenges, Kaylie demonstrates remarkable resilience and joy, even participating in public events like ringing the Nasdaq opening bell, showcasing her ability to overcome sensory challenges.
• 💖 The family finds hope in Kaylie's progress and their ability to advocate, believing that their professional access can make a difference in moving the needle forward for rare disease research.
• 💬 Becky shares that many people have a connection to rare diseases, suggesting it's a more common ordeal than often perceived, and encourages engagement with CNBC Cures for updates and community.